Primary Ciliary Dyskinesia 39
Disease ID: disease_node_14677
Connections displayed (default: 10).
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| Dbxref | MIM:618254 |
|---|---|
| Subclassof | DOID_0050737, DOID_9562 |
| Data Source | DOID |
| Synonyms | CILD39, primary ciliary dyskinesia 39 with or without situs inversus |
| Doid Label | primary ciliary dyskinesia 39 |
| Doid Description | A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the LRRC56 gene on chromosome 11p15.5. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_14677 |
| Doid Id | DOID_0111854 |
| Label | Primary Ciliary Dyskinesia 39 |
- Outgoing r'ship
SUBCLASS_OFto/from Ciliary Motility Disorders(ID:disease_node_2113) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)